Associated Papers
Arg339Gln Is a Recurrent Variant in Rare Combined Oxidative Phosphorylation Deficiency 4: A New Patient with Biallelic TUFM Gene Variant.
Tekmenuray-Unal A et al.
Molecular Syndromology, 2025
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolínez-Fernández Á et al.
Frontiers in Cell and Developmental Biology, 2024
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S6
Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.
Denisova E et al.
Cancer Gene Therapy, 2022
34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-CFLP5N
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T et al.
Journal of Human Genetics, 2019
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Di Nottia M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
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